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- Title
Acidemia metilmalónica y homocisteinemia de inicio tardío.
- Authors
Brox-Torrecilla, Noemi; Arhip, Loredana; Miguélez-González, María; Castellano-Gasch, Sandra; Contreras-Chicote, Ana; Luisa Rodríguez-Ferrero, María; Motilla-de la Cámara, Marta Luisa; Serrano-Moreno, Clara; Cuerda Compes, Cristina; Brox-Torrecilla, Noemí; Rodríguez-Ferrero, María Luisa
- Abstract
<bold>Introduction: </bold>Introduction: cobalamin C (Cbl C) deficiency is the most common defect in intracellular cobalamin metabolism, associated with methylmalonic acidemia and homocystinuria. Its late clinical presentation is heterogeneous and may lead to a diagnostic delay. Case report: we report the case of a 45-year-old man with a 20-year history of chronic kidney disease and recently diagnosed spastic paraparesis, both of unknown origin. Metabolic studies revealed elevated levels of homocysteine and methylmalonic acid in the blood and urine. A genetic study confirmed cobalamin C deficiency. Treatment with hydroxocobalamin, betaine, carnitine, and folic acid was started. The patient eventually received a kidney transplant. Discussion: early diagnosis and appropriate treatment improve the clinical evolution of patients with Cbl C deficiency. Determination of homocysteine, organic acids, and other amino acids should be included in the differential diagnosis of patients with nephrological-neurological symptoms without a clear etiology.
- Subjects
VITAMIN B12; METHYLMALONIC acid; HOMOCYSTINURIA; AMINO acid metabolism disorders; CARNITINE; CHRONIC kidney failure complications; CHRONIC kidney failure; DELAYED diagnosis; VITAMIN deficiency; HYPERHOMOCYSTEINEMIA; DISEASE complications
- Publication
Nutrición Hospitalaria, 2021, Vol 38, Issue 4, p871
- ISSN
0212-1611
- Publication type
journal article
- DOI
10.20960/nh.03623